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LUMC/hutspot: Version 1.2.0

Authors: Bollen, Sander; Vorderman, Ruben;

LUMC/hutspot: Version 1.2.0

Abstract

Hutspot This is a multisample DNA variant calling pipeline for use in diagnostics based on Snakemake, bwa and the GATK HaplotypeCaller. Features Any number of samples is supported Whole-genome calling, regardless of wet-lab library preparation. Follows modern best practices Each sample is individually called as as a GVCF. A multisample VCF is then produced by genotyping the collection of GVCFs. Data parallelization for calling and genotyping steps. Using ~100 chunks, we call an entire exome in ~15 minutes! Reasonably fast. 96 exomes in < 24 hours. No unnecessary jobs Coverage metrics for any number of bed files. Fully containerized rules through singularity and biocontainers. Legacy conda environments are available as well. Optionally sub-sample inputs when number of bases exceeds a user-defined threshold

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Keywords

snakemake, ngs, diagnostics, genetics, bioinformatics

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selected citations
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This is an alternative to the "Influence" indicator, which also reflects the overall/total impact of an article in the research community at large, based on the underlying citation network (diachronically).
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popularity
This indicator reflects the "current" impact/attention (the "hype") of an article in the research community at large, based on the underlying citation network.
BIP!Popularity provided by BIP!
influence
This indicator reflects the overall/total impact of an article in the research community at large, based on the underlying citation network (diachronically).
BIP!Influence provided by BIP!
impulse
This indicator reflects the initial momentum of an article directly after its publication, based on the underlying citation network.
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